MEHMO syndrome

Term ID

DOID:0060801

Synonyms

• mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
• MRXS20
• MRXS25
• syndromic X-linked mental retardation 20
• syndromic X-linked mental retardation 25
• X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Definition

A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (2)

References

• MESH:C537451
• MIM:300148
• ORDO:85282
• SNOMEDCT_US_2023_03_01:722037004
• UMLS_CUI:C1846278

Ontology

Human Disease   ( DOID:0060801 )